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Identification and molecular characterization of the ‐‐ CAMPANIA deletion, a novel α°‐thalassemic defect, in two unrelated Italian families
Author(s) -
Sessa Raffaele,
Puzone Stella,
Ammirabile Massimiliano,
Piscopo Carmelo,
Pagano Leonilde,
Colucci Simona,
Izzo Paola,
Grosso Michela
Publication year - 2010
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.21591
Subject(s) - identification (biology) , characterization (materials science) , computer science , content (measure theory) , computational biology , medicine , biology , mathematics , nanotechnology , materials science , botany , mathematical analysis
We describe a novel deletion form of alpha-thalassemia which removes a region of 31 kilobase encompassing the entire a-globin gene cluster. In association with the - alpha+ 3.7 deletion this defect gave rise to a typical hemoglobin H (HbH) disease in two unrelated boys of Southern Italian descent. The molecular characterization of the deletion revealed involvement of Alu repeat sequences, indicating that this rearrangement was originated from an event of unequal recombination. Furthermore, sequence analysis of the junctional region and genotyping of polymorphic sites flanking the 5’ and 3’ breakpoints suggest a unique origin for this mutation in these two patients. Our study contributes to define the wide spectrum of mutations that underlie the thalassemia syndromes in the Mediterranean area and provides support to prevention programs of a-thalassemia based on molecular screening and prenatal diagnosis in couples at risk